Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders

Human Mutation

Volumn 24, Issue 4, 2004, Pages 330-337

  Persikov, Anton V ^a   Pillitteri, Rian J ^a   Amin, Priyal ^a   Schwarze, Ulrike ^b   Byers, Peter H ^b   Brodsky, Barbara ^a  

^a RUTGERS ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Alport; COL1A1; COL1A2; COL3A1; COL4A5; COL7A1; Collagen; Computational analysis; Dystrophic epidermolysis bullosa; Ehlers Danlos; Osteogenesis imperfecta

Indexed keywords

COLLAGEN; COLLAGEN TYPE 1; COLLAGEN TYPE 3; COLLAGEN TYPE 4; GLYCINE;

ALPORT SYNDROME; AMINO ACID SUBSTITUTION; ARTICLE; CONNECTIVE TISSUE DISEASE; EHLERS DANLOS SYNDROME; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GENE MUTATION; GENE STRUCTURE; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; PRIORITY JOURNAL; TRIPLE HELIX;

AMINO ACID SUBSTITUTION; AMINO ACIDS; COLLAGEN; COLLAGEN DISEASES; COLLAGEN TYPE I; COLLAGEN TYPE III; COLLAGEN TYPE IV; COLLAGEN TYPE VII; EPIDERMOLYSIS BULLOSA DYSTROPHICA; GLYCINE; HUMANS; MUTATION, MISSENSE; NEPHRITIS, HEREDITARY; PROTEIN DENATURATION; PROTEIN STRUCTURE, SECONDARY; PROTEIN STRUCTURE, TERTIARY; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 5044236064     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20091     Document Type: Article

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